Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brain imaging abnormality
Very frequent (80-99%)HP:0410263
Dysmyelinating leukodystrophy
Very frequent (80-99%)HP:0006978
Appendicular ataxia
Frequent (30-79%)HP:0002070
Brainstem atrophy
Frequent (30-79%)HP:0007366
Cerebral atrophy
Frequent (30-79%)HP:0002059
Degeneration of cerebellum
Frequent (30-79%)HP:0001272
Epilepsy
Frequent (30-79%)HP:0001250
Increased reflexes
Frequent (30-79%)HP:0001347
Instability or lack of coordination of central trunk muscles
Frequent (30-79%)HP:0002078
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Irritability
Frequent (30-79%)HP:0000737
Optic atrophy
Frequent (30-79%)HP:0000648
Premature menopause
Frequent (30-79%)HP:0008209
Vermian atrophy
Frequent (30-79%)HP:0006855
Worsening neurological symptoms
Frequent (30-79%)HP:0002344
Abnormal finger chase test
Occasional (5-29%)HP:0001310
Abnormal pons morphology
Occasional (5-29%)HP:0007361
Arthrogryposis multiplex
Occasional (5-29%)HP:0002804
Behavioural disorders
Occasional (5-29%)HP:0000708
Blindness
Occasional (5-29%)HP:0000618
Cataract
Occasional (5-29%)HP:0000518
Cognitive deficits
Occasional (5-29%)HP:0100543
Decreased fetal movement
Occasional (5-29%)HP:0001558
Decreased size of cranium
Occasional (5-29%)HP:0000252
Deglutition disorder
Occasional (5-29%)HP:0002015
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Dilatation of lateral cerebral ventricles
Occasional (5-29%)HP:0006956
Dysgyria
Occasional (5-29%)HP:0032398
Encephalopathy
Occasional (5-29%)HP:0001298
Feeding difficulties
Occasional (5-29%)HP:0011968
Quick Facts
- SNOMED CT
- 447351004
- UMLS CUI
- C1858991
- Fully Specified Name
- Vanishing white matter disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.